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1.

Sarcoma

Your soft tissues connect, support, or surround other tissues. Examples include your muscles, tendons, fat, and blood vessels. Soft tissue sarcoma is a cancer of these soft tissues. There are many kinds, based on the type of tissue they started in. They may cause a lump or swelling in the soft tissue. Sometimes they spread and can press on nerves and organs, causing problems such as pain or trouble breathing. No one knows exactly what causes these cancers. They are not common, but you have a higher risk if you have been exposed to certain chemicals, have had radiation therapy, or have certain genetic diseases. Doctors diagnose soft tissue sarcomas with a biopsy. Treatments include surgery to remove the tumor, radiation therapy, chemotherapy, or a combination. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
224714
Concept ID:
C1261473
Neoplastic Process
2.

Diagnosis

Description:The source act is intended to help establish the presence of a (an adverse) situation described by the target act. This is not limited to diseases but can apply to any adverse situation or condition of medical or technical nature.  [from HL7]

MedGen UID:
8354
Concept ID:
C0011900
Finding
3.

Ewing sarcoma

A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. [from HPO]

MedGen UID:
506718
Concept ID:
CN168774
Finding
4.

Sarcoma

A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. [from HPO]

MedGen UID:
506452
Concept ID:
CN117138
Finding
5.

Ewing sarcoma

Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to be related because they have similar genetic causes. These types of Ewing sarcoma can be distinguished from one another by the tissue in which the tumor develops. Approximately 87 percent of Ewing sarcomas are Ewing sarcoma of bone, which is a bone tumor that usually occurs in the thigh bones (femurs), pelvis, ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma describes tumors in the soft tissues around bones, such as cartilage. pPNETs occur in nerve tissue and can be found in many parts of the body. A type of pPNET found in the chest is called Askin tumor.Ewing sarcomas most often occur in children and young adults. Affected individuals usually feel stiffness, pain, swelling, or tenderness of the bone or surrounding tissue. Sometimes, there is a lump near the surface of the skin that feels warm and soft to the touch. Often, children have a fever that does not go away. Ewing sarcoma of bone can cause weakening of the involved bone, and affected individuals may have a broken bone with no obvious cause.It is common for Ewing sarcoma to spread to other parts of the body (metastasize), usually to the lungs, to other bones, or to the bone marrow.
[from GHR]

MedGen UID:
107816
Concept ID:
C0553580
Neoplastic Process
6.

Neuroectodermal neoplasm

A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells. [from HPO]

MedGen UID:
60072
Concept ID:
C0206093
Neoplastic Process
7.

Sarcoma, Experimental

Experimentally induced neoplasms of CONNECTIVE TISSUE in animals to provide a model for studying human SARCOMA. [from MeSH]

MedGen UID:
20652
Concept ID:
C0036216
Experimental Model of Disease; Neoplastic Process
8.

Experimental Tumor

Experimentally induced new abnormal growth of TISSUES in animals to provide models for studying human neoplasms. [from MeSH]

MedGen UID:
10216
Concept ID:
C0027659
Experimental Model of Disease; Neoplastic Process
9.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). [from OMIM]

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
10.

Peripheral neuroepithelioma

The Ewing sarcoma family of tumors (primitive neuroectodermal tumors; PNET) comprise morphologically heterogeneous tumors that are characterized by nonrandom chromosomal translocations involving the EWS gene on chromosome 22q12 and one of several members of the ETS family of transcription factors. The tumors include Ewing sarcoma, peripheral neuroepithelioma, and Askin tumor. In approximately 90% of cases of ESFT, the FLI1 gene (193067) on chromosome 11 is the fusion partner of EWS; in approximately 10%, the EWS fusion partner is the ERG gene (165080) on chromosome 22. Many other ETS family members have been identified as fusion partners of EWS, but these cases are rare (Khoury, 2005). [from OMIM]

MedGen UID:
151926
Concept ID:
C0684337
Neoplastic Process
11.

Signal Transduction Pathways

An elaboration of the known or inferred interactions involved in a signal transduction pathway. [from NCI]

MedGen UID:
39530
Concept ID:
C0086982
Molecular Function
12.

Inhibition

MedGen UID:
5809
Concept ID:
C0021469
Molecular Function
13.

Neoplasms, Bone Tissue

Neoplasms composed of bony tissue, whether normal or of a soft tissue which has become ossified. The concept does not refer to neoplasms located in bones. [from MeSH]

MedGen UID:
104905
Concept ID:
C0206639
Neoplastic Process
14.

Epithelioid Sarcoma

An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma). [from NCI]

MedGen UID:
104753
Concept ID:
C0205944
Neoplastic Process
15.

Connective and Soft Tissue Neoplasm

Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue. [from MeSH]

MedGen UID:
60224
Concept ID:
C0206765
Neoplastic Process
16.

Neoplasm of connective tissues

Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. [from MeSH]

MedGen UID:
45035
Concept ID:
C0027656
Neoplastic Process
17.

Disorder of bone

Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and your teens, your body adds new bone faster than it removes old bone. After about age 20, you can lose bone faster than you make bone. To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break. Different kinds of bone problems include. -Low bone density and osteoporosis, which make your bones weak and more likely to break . -Osteogenesis imperfecta makes your bones brittle . -Paget's disease of bone makes them weak . -Bones can also develop cancer and infections. - Other bone diseases, which are caused by poor nutrition, genetics, or problems with the rate of bone growth or rebuilding. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.  [from MedlinePlus]

MedGen UID:
14182
Concept ID:
C0005940
Disease or Syndrome
18.

Osteosarcoma

A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor. [from HPO]

MedGen UID:
10501
Concept ID:
C0029463
Neoplastic Process
19.

Disorder of musculoskeletal system

A category of diseases that involve muscles and bones. [from NCI]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
20.

Bone Neoplasm

A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage. [from NCI]

MedGen UID:
2701
Concept ID:
C0005967
Neoplastic Process
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